In the early 1980s, as the bleeding disorders community grappled with the contamination of the nation’s blood supply with HIV, the question arose: How can we establish a system to monitor the bleeding disorders community for any potential infectious disease issues from exposure to contaminated blood and blood products? Along with this important question, concerns such as joint health and the effectiveness and complications of various treatments were top of mind.

Unfortunately, the data that researchers needed for this type of surveillance were not available. Because hemophilia is a rare disorder, it’s typically underrepresented in most national health databases.

“A lot of what we know about the health and healthcare of the general population comes from the study of large national databases such as the National Health and Nutrition Examination Survey,” says J. Michael Soucie, PhD, associate director for science at the Division of Blood Disorders at the Centers for Disease Control and Prevention (CDC). “But the numbers of people with rare disorders are so small, the chances that people with these disorders will be selected for study in these national surveys is also very small.” Therefore, these databases are generally not useful to researchers studying the health of people with rare disorders.

An Active Network

While people with bleeding disorders weren’t easily accounted for in existing national databases, researchers did have a built-in community of people with blood disorders to work with. In 1975, the national network of hemophilia treatment centers (HTCs) was founded. These centers provide access to the latest treatment, patient information, research and clinical trials, and care for nearly 28,000 people with hemophilia, von Willebrand disease and other bleeding disorders.

With access to patient data from 140 HTCs, researchers from CDC could track the same patients year after year. In 1998, CDC established the Universal Data Collection (UDC) system. “This is so valuable because when you have a number of observations on the same person over time, you can put together a story,” says Soucie. “These observations allow you to not only measure trends in health outcomes, but more importantly, directly assess the effect of different treatments, changes in the healthcare system, policies, etc., on those outcomes.”

For the UDC to work, it would need patients to supply clinical data, fill out a survey about quality of life and provide a blood sample at their comprehensive clinic visit each year. Part of the sample was tested for hepatitis A, B and C viruses and for HIV, while the remaining specimen was stored for future blood product safety investigations.

Patient participation was robust—more than 80% of people with hemophilia who received care at an HTC during the collection period participated in the study, translating to about 27,000 people over the program’s 13-year run. They had good reason: Tests were not only confidential and free, but they also helped protect the hemophilia community from potential blood safety threats and led to new avenues of research.

So far, the data collected have been used as source material for 26 peer-reviewed studies, including a study published in the June 16, 2016, issue of the journal Blood. That study was nominated for the CDC’s highest award, the Charles C. Shepard Science Award. Several additional studies are in the works.

Ongoing Surveillance

The UDC closed in 2011, but monitoring of the bleeding disorders community continues. The next phase of national surveillance started recently and is nicknamed Community Counts. Like the UDC, Community Counts is operated through the national HTC network. The program is funded by the CDC through a cooperative agreement awarded to the American Thrombosis and Hemostasis Network (ATHN) in partnership with the US Hemophilia Treatment Center Network (USHTCN). Its main goals are to:

Gather basic patient profile information to determine the population size and characteristics of people receiving care at HTCs.

Register detailed information on HTC patients every year.

Track characteristics, diagnoses and causes of death of HTC patients.

As with the UDC, information gathered from Community Counts will be used in reports and studies, thus offering more information to healthcare providers, public health workers, patients and others. Thanks to the access to uniform health data from a wide range of people with a rare disorder that these systems provide, the innovations that will continue are potentially limitless.